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RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate) [ Homo sapiens (human) ]

Gene ID: 100529264, updated on 23-Nov-2021

Summary

Official Symbol
RAB4B-EGLN2provided by HGNC
Official Full Name
RAB4B-EGLN2 readthrough (NMD candidate)provided by HGNC
Primary source
HGNC:HGNC:44465
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EIT6; PHD1; EGLN2; EIT-6; HPH-1; HPH-3; HIF-PH1; RERT-lncRNA
Summary
This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]
Expression
Broad expression in testis (RPKM 52.7), spleen (RPKM 32.6) and 25 other tissues See more
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Genomic context

See RAB4B-EGLN2 in Genome Data Viewer
Location:
19q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40778219..40808441)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41284124..41314346)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene MIA SH3 domain containing Neighboring gene RAB4B, member RAS oncogene family Neighboring gene egl-9 family hypoxia inducible factor 2 Neighboring gene cytochrome P450 family 2 subfamily T member 1, pseudogene Neighboring gene cytochrome P450 family 2 subfamily F member 2, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
GeneReviews: Not available
Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Other Names

  • Egl nine homolog 2
  • Estrogen-induced tag 6
  • HIF-prolyl hydroxylase 1
  • Hypoxia-inducible factor prolyl hydroxylase 1
  • Prolyl hydroxylase domain-containing protein 1
  • RAB4B-EGLN2 readthrough (non-protein coding)
  • RAB4B-EGLN2 readthrough long non-coding RNA

Clone Names

  • FLJ78649

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_037791.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008537, AK291385

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40778219..40808441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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